LOINC
Version 2.72

78218-5BCL2 gene rearrangements [Presence] in Blood or Tissue by FISHActive

Term Description

This term was created for, but is not limited in use to, the Vysis BCL2 Break Apart FISH Probe Kit, which is intended to detect chromosomal rearrangements at the BCL2 locus on chromosome region 18q21.
Source: Regenstrief LOINC

Part Descriptions

LP19775-3   BCL2 gene rearrangements
The BCL2 gene (B-cell CLL/lymphoma 2) [HGNC Gene ID:990] is located on chromosome 18q21.3. This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq, Jul 2008] [NCBI Gene ID:596] Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: National Center for Biotechnology Information (NCBI) Gene, FISH

LP62864-1   FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

Fully-Specified Name

Component
BCL2 gene rearrangements
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
FISH

Additional Names

Short Name
BCL2 gene Rear Bld/T Ql FISH
Display Name
BCL2 rearrangements FISH Ql (Bld/Tiss)
Consumer Name Alpha
BCL2 rearrangements, Blood or tissue specimen

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Language Variants Get Info

zh-CNChinese (China)
BCL2 基因重排:存在情况或阈值:时间点:全血/组织:序数型:FISH
nl-NLDutch (Netherlands)
BCL2-gentranslocaties:aanwezigheid:moment:bloed of weefsel:ordinaal:FISH
et-EEEstonian (Estonia)
BCL2 geeni muudatused:PrThr:Pt:B/Tis:Ord:FISH
fr-FRFrench (France)
BCL2 gène réarrangements:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:FISH
it-ITItalian (Italy)
BCL2, riarrangiamenti gene:PrThr:Pt:Sangue/Tess:Ord:FISH
es-MXSpanish (Mexico)
Reordenamientos del gen BCL2:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Hibridación fluorescente in situ (FISH)
es-ESSpanish (Spain)
Reordenamientos del gen BCL2:PrThr:Punto temporal:Sangre o tejido:Ord:Hibridación in situ fluoresente (FISH)
tr-TRTurkish (Turkey)
BCL2 geni yeniden düzenlenmeler:MevcEşik:Zmlı:Kan/Dk:Srl:FISH

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78218-5